CRYBA1, crystallin beta A1, 1411

N. diseases: 20; N. variants: 6
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1264025914
rs1264025914 		1.000 0.040 17 29250301 splice donor variant G/A;T snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2004 2017
dbSNP: rs1264025914
rs1264025914 		1.000 0.040 17 29250301 splice donor variant G/A;T snv 7.0E-06
CUI: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		Eye Diseases 0.700 1.000 4 1998 2012
dbSNP: rs775038545
rs775038545 		1.000 0.040 17 29253783 splice donor variant G/A;C;T snv 2.8E-05; 4.0E-06; 4.0E-06; 4.0E-06; 4.0E-06
CUI: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		Eye Diseases 0.700 1.000 2 1998 2004
dbSNP: rs17727765
rs17727765 		1.000 0.040 17 29249944 intron variant T/C snv 5.6E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs1555547008
rs1555547008 		1.000 0.040 17 29254227 inframe deletion GTGGGTATC/- delins
CUI: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		Eye Diseases 0.700 0
dbSNP: rs1567671947
rs1567671947 		1.000 0.040 17 29254308 frameshift variant CA/- del
CUI: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		Eye Diseases 0.700 0
dbSNP: rs147994059
rs147994059 		1.000 0.040 17 29250258 missense variant G/A;C;T snv 1.1E-03; 4.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2012 2012